Submissions for variant NM_003098.3(SNTA1):c.339C>G (p.Leu113=)

gnomAD frequency: 0.00004  dbSNP: rs746780665

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000615656	SCV000721830	likely benign	not specified	2017-08-04	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV002456353	SCV002617059	likely benign	Cardiovascular phenotype	2020-12-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV003647786	SCV004529767	likely benign	Long QT syndrome	2023-11-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935673	SCV004749934	likely benign	SNTA1-related disorder	2019-06-26	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).